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Cell-Free DNA Integrity Analysis in Urine Samples
07:58

Cell-Free DNA Integrity Analysis in Urine Samples

Published on: January 5, 2017

14.3K

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum

M E Michel1, D J Konczyk2, K S Yeung3

  • 1Department of Orthopaedic Surgery, Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.

Clinical Genetics
|December 13, 2017
PubMed

Insights

Urine DNA analysis can detect PIK3CA mutations in individuals with Congenital lipomatous overgrowth with vascular, epidermal, and skeletal (CLOVES) anomalies. This non-invasive method aids in diagnosing CLOVES syndrome and understanding Wilms tumor origins.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatric Syndromes

Background:

  • Congenital lipomatous overgrowth with vascular, epidermal, and skeletal (CLOVES) anomalies and Klippel-Trenaunay (KTS) syndromes stem from somatic PIK3CA mutations.
  • Detecting these mutations typically requires invasive tissue biopsies, as they are absent in blood.
  • Wilms tumor is a known complication in some CLOVES patients, suggesting a link to PIK3CA mutations.

Purpose of the Study:

  • To investigate the utility of urine DNA for detecting PIK3CA mutations in CLOVES and KTS syndromes.
  • To assess if urine mutation detection correlates with affected tissue mutations.
  • To explore the origin of Wilms tumors in CLOVES patients through mutation analysis.

Main Methods:

  • DNA extraction from urine samples of 17 CLOVES and 24 KTS participants.
  • Screening of common PIK3CA mutation hotspots using droplet digital polymerase chain reaction (ddPCR).
  • Comparison of urine-detected mutations with previously identified mutations in affected tissues.

Main Results:

  • PIK3CA mutations were detected in the urine of 35% (6/17) of CLOVES participants.
  • Four out of eight CLOVES individuals with known tissue mutations also had detectable mutations in their urine.
  • The same PIK3CA mutation was identified in the affected tissue, urine, and Wilms tumor of one CLOVES patient.
  • No PIK3CA mutations were found in the urine samples of KTS participants.

Conclusions:

  • Urine DNA analysis is a viable, non-invasive method for detecting PIK3CA mutations in individuals with CLOVES syndrome.
  • This approach can aid in the diagnosis of CLOVES and potentially identify the cellular origin of associated Wilms tumors.
  • Urine mutation detection offers a practical alternative to tissue biopsy for PIK3CA-related disorders like CLOVES.
Keywords:
CLOVES syndromePIK3CASNPsWilms tumorsomatic mutation

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